or
or
Exact

Results for "SMC6"

Variant Events: 12

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
SMC6     5-5185-003chr2:
17866067-17866067
TCintronicDe novo--Trost2022 G
SMC6     MSSNG00424-003chr2:
17862428-17862428
CTintronicDe novo--Trost2022 G
SMC6     3-0742-000chr2:
17896065-17896065
CTintronicDe novo--Trost2022 G
SMC6     4-0049-003chr2:
17892220-17892220
ACintronicDe novo--Trost2022 G
SMC6     11215.p1chr2:
17877683-17877683
TGexonicDe novononsynonymous SNVNM_024624
NM_001142286
c.A2405C
c.A2405C
p.N802T
p.N802T
14.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
SMC6     SP0022638chr2:
17927141-17927141
CTexonicDe novononsynonymous SNVNM_024624
NM_001142286
c.G73A
c.G73A
p.D25N
p.D25N
10.87-Fu2022 E
Trost2022 G
Zhou2022 GE
SMC6     MT_54.3chr2:
17931006-17931006
ACintronicDe novo--Trost2022 G
SMC6     Lim2017:68544chr2:
17877683-17877683
TGexonicDe novononsynonymous SNVNM_024624
NM_001142286
c.A2405C
c.A2405C
p.N802T
p.N802T
14.7-Lim2017 E
SMC6     MSSNG00208-003chr2:
17927607-17927607
GTintronicDe novo--Trost2022 G
SMC6     SP0120159chr2:
17919560-17919560
ATexonicDe novononsynonymous SNVNM_024624
NM_001142286
c.T272A
c.T272A
p.V91D
p.V91D
26.3-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SMC6     68544chr2:
17877683-17877683
TGexonicDe novononsynonymous SNVNM_024624
NM_001142286
c.A2405C
c.A2405C
p.N802T
p.N802T
14.7-Fu2022 E
Trost2022 G
SMC6     09C87444chr2:
17902343-17902346
CAATCintronicDe novo--Satterstrom2020 E
Trost2022 G
Source Variant Information

, -

Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
More